Variant report

Variant	rs830020
Chromosome Location	chr2:169685756-169685757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169685233..169688150-chr2:169693345..169695299,2	K562	blood:
2	chr2:169678781..169680698-chr2:169684813..169687488,2	K562	blood:
3	chr2:169685233..169691832-chr2:169692007..169697159,7	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs481067	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs490278	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs495074	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs495135	0.92[EUR][1000 genomes]
rs503664	0.94[ASN][1000 genomes]
rs518337	0.87[ASN][1000 genomes]
rs526418	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs531328	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs548367	0.83[CEU][hapmap];0.81[CHB][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs558922	0.86[TSI][hapmap]
rs830028	0.81[CHB][hapmap]
rs830029	0.81[CHB][hapmap]
rs853666	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs830020	SPC25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
2	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
3	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
5	chr2:169673400-169687600	Weak transcription	Right Ventricle	heart
6	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
7	chr2:169673400-169692200	Weak transcription	Gastric	stomach
8	chr2:169676400-169687200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:169676600-169687400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:169676600-169704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:169677000-169686000	Weak transcription	Left Ventricle	heart
13	chr2:169678400-169686000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:169682000-169693600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:169682200-169695000	Weak transcription	Small Intestine	intestine
16	chr2:169683400-169717600	Weak transcription	Ovary	ovary
17	chr2:169684000-169687600	Weak transcription	Lung	lung
18	chr2:169684200-169690200	Weak transcription	Pancreas	Pancrea
19	chr2:169685000-169685800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:169685000-169685800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:169685200-169686000	Weak transcription	K562	blood
22	chr2:169685200-169689000	Strong transcription	Fetal Intestine Large	intestine
23	chr2:169685600-169694200	Strong transcription	Duodenum Mucosa	Duodenum

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